Jan and I were married twelve years before Christopher was born in July of 1989. He was our little miracle.

From a guys perspective the pregnancy progressed pretty well though Jan was sick a lot and we were quietly concerned that the baby didn’t seem to move as much as other babies. I know Jan has lots more insight into these times than I do. She was watched closely because there were concerns.

When he was born, he was small. I remember 4lb 6oz but I’m probably off a mile. I just remember he was tiny. He seemed normal though his cry was a little bit quieter but he seemed fine. I remember his being able to do a pushup in his bassinet. Over the next bit though we began to think something was wrong. He would occasionally turn a bit dusky but we couldn’t put our finger on it. I remember going to a Lamaze reunion with an apnea monitor on a long cord and marveling how much the other kids were squirming. By now we knew something was wrong and we went from doctor to doctor trying to get someone to believe us. At the three month mark our then pediatrician was out of town on a family emergency when Christopher crashed. It’s as though he could eat or breath but not both. They did a blood gas in emergency and slapped him on a ventilator and he’s been on one since. That was in October of 1989.

He spent the next four months in ICU undergoing multiple tests that pretty much showed he was normal. I don’t think there was any such thing as SMARD back then. I don’t think kids that had it generally lived long enough to get a diagnosis and, of course, they hadn’t sequenced the human genome yet. From our and their perspective it was an orphan disease. I remember several times throughout the years MDA would have nothing to do with us because we couldn’t give them a diagnosis (actually, they never did give us any help at all – It’s hard to explain how frustrating that was, having a child with such major muscle/nerve problems that he couldn’t move or even breath and because we didn’t have a name for it we were literally on our own. You can see I have issues with them. I hope others have fared better).

At seven months of age Christopher came home on a hospital ventilator because the portable vents in those days were not adequate for a kid that small. Ventilators have changed a lot since those days. What he has now is half the size of a brief case but superior in nearly every way to that first vent.

We were on our own. No one had ever done what we were doing (that we or the children’s hospital knew of). If the internet existed, we, and just about everyone else, had never heard of it. We converted a smallish bedroom into a hospital room with extra wiring and a sink installed against the wall.

And so began our new lives. I am a dentist and Jan had, a number of years earlier, changed majors two and a half years into a four year nursing program because she couldn’t stand nursing (one of those little ironies). We knew the basics about cross contamination. I knew a good deal about anatomy, physiology, metabolics, endocrinology and pharmacology. [In the area of metabolics and nutrition Jan has far surpassed me. She has been doing research for years. This brings up a point. Jan is very willing to share anything she has learned but she is every bit as interested in learning what you all have learned as well. Nobody knows better than us how a bit of info can make a difference.]

As I look back I think what helped a lot, in addition to our faith, is that Christopher was small. We could easily move him around. I could hold him in my arms and put him in my lap. He could still move a bit for a couple of years and I can, in my mind, still hear him say “pa pa”. He has been unable to speak or move for years and now and he weighs 160lbs. [Another aside: Jan and I differ over the issue of “he can’t move from the chin down”. If we suspend his arms he can get them to swing back and forth enough to activate switches but he is unable to do much else. He can’t turn his head or breathe independently at all. What I find fascinating is if it is innervated spinally it doesn’t work. If it’s innervated cranially he’s OK. He can smile, smirk, look around laugh etc but it’s all facial and head muscles. He can turn on and off the most beautiful smile like a light switch. His slight arm movement seems to be the result of some accessory innervation of the shoulder girdle from his cranial nerves. I guess, on this point I’m glass half empty and she’s half full.]

We have had Christopher at home now for over twenty years. He has only been back to the hospital twice since he came home. The first time it was for a neurogenic bladder. We discovered he was not voiding well enough and his blood pressure went nuts until we could figure it out. He now gets cathed several times a day. The second time was for his lungs. That was a couple of years ago and we almost lost him. He was in ICU for a month but he pulled through.

Advertisements

Like this:

LikeLoading...

Related

3 responses to “Profiling SMARD: Christopher’s Story”

I have a 6 month old grandson in Oakland childrens hospital with SMARD. He has been there 3 months. I go at night and my daughter is there during the day. We hope to get him home soon . We often wonder about how many years he has. This is amazing to here that your son has had such a long life . This has been a challenging time for all but we love and enjoy our beautiful little boy.

Peggy-you are such an wonderful grandma to go in at night with your grandson. My mom has been so supportive like that to us and it has made ALL the difference! I would love to see his story on Bridging the Gap as well! 🙂

Wow, I must say you guys are incredible parents. Especially having to go through what you have with taking him home when it “had never been done”, and not having any support from mda. I admire you so much! And I admire Christopher! He has been a fighter and done so well to stay out of the hospital! I am amazed at all of our smard kids-each so very different and yet one thing the same, They are so incredibly sweet and loving and haved changed our lives for the better. He sounds amazing, thank you for sharing your story! I may have so many things to ask you guys if its okay? Seeing how he is the oldest diagnosed with smard that I know! Just amazing! 🙂

Welcome to Bridging the Gap

Hello! If you are here, it probably means you know and love someone with SMARD (Spinal Muscular Atrophy with Respiratory Distress). SMARD, a genetic neuromuscular disorder, is extremely rare, and there is neither treatment nor cure.

Here at Bridging the Gap, we are hoping to offer a lifeline to families struggling with a SMARD diagnosis. Knowing that SMARD patients are few and far between, we would like to bridge the gap between us, as well as offer support and a community.

Welcome! If you have any questions or are recently diagnosed and don't know where to begin, email us at bridgingthegapSMARD@hotmail.com

Email Subscription

Enter your email address to subscribe to this blog and receive notifications of new posts by email.

Join 27 other followers

Search for:

Resources

http://fsma.org Families of SMA is an organization dedicated to helping families affected by SMA and SMARD. They are involved in research and fundraising as well.

http://fightsma.org FightSMA is an organization that lobbies for SMA research in the US.

http://SMASpace.com SMASpace provides a place that parents of children with SMA and SMARD can communicate. There is a specific group for SMARD.

http://fightermom.com Mothers as disease advocates.

http://gwendolynstrongfoundation.com The GSF advocates and raises money for SMA research and cure. They are especially involved with stem cell research.

http://kidzorg.blogspot.com Kidz is a great place for special needs parents.

http://www.5minutesforspecialneeds.com A site for special needs parents.

http://littlestheroesproject.com Littlest Heroes offers free photo sessions for chronically and terminally ill children and their families.